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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01123 | HMG-CoA synthase deficiency | ... recessive disorder of ketogenesis. Two isoforms of HMGCS are found in higher eukaryotes: the cytosolic HMGCS1 and mitochondrial HMGCS2. Mitochondrial HMGCS2 is involved in hepatic ketogenesis, and HMGCS2 ... | Inherited metabolic disorder, Mitochondrial disease | HMGCS2 [HSA:3158] [KO:K01641] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |